51 results on '"Mugneret, F"'
Search Results
2. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
3. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
4. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
5. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
6. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study
7. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
8. Les lésions spécifiques cutanées dans la leucémie myélomonocytaire chronique : un spectre de proliférations de cellules myélomonocytaires et dendritiques. Étude de 42 cas
9. What can we learn from old microdeletion syndromes using array-CGH screening?
10. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
11. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
12. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
13. EWSR1 (Ewing sarcoma region 1)
14. Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Cote d'Or (Burgundy, France)
15. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
16. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome
17. Delineation of 15q13.3 microdeletions
18. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion
19. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
20. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
21. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
22. Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
23. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique
24. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
25. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
26. Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome–acute myeloid leukemia actually differ?
27. Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation
28. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
29. HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)
30. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
31. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
32. Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer
33. Cytogenetic Abnormalities in B-CLL at Binet Stage A: Overview in a Cohort of 484 Untreated Patients and Relations with the ZAP-70 and IgVH Mutation Status.
34. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
35. Anomalies chromosomiques dans les leucémies aiguës myéloïdes
36. Infrequent rearrangement of the STAT5b locus in primary human hematologic malignancies
37. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
38. Minimally differentiated acute myeloid leukemia (AML-M0) with lymphoid presentation at relapse: a case report
39. MLL amplification in acute leukaemia: a United Kingdom Cancer Cytogenetics Group (UKCCG) study
40. Increase therapy-related leukemia secondary to breast cancer
41. Ten novel 11q23 chromosomal partner sites
42. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation
43. Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study of 432 patients
44. Translocation 1;19 in two brain tumors
45. LETTER TO THE EDITOR.DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY
46. Epidemiological characteristics of myelodysplastic syndrome in a well-defined French population
47. Cytogénétique des syndromes myélodysplasiques
48. Translocation (21;22)(q22;q12) in a Ewing sarcoma: New case characterized by cytogenetic analysis and fluorescence in situ hybridization of a fresh tumor
49. A third tal-1 promoter is specifically used in human T cell leukemias.
50. The Sole Presence of the Testis-Determining Region of the Y Chromosome (SRY) in 46, XX Patients Is Associated with Phenotγpic Variability
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